Tests & Diagnosis

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Is genetic testing available for an MTHFR gene mutation?

Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood, especially when a person has a personal or family history of cardiovascular conditions such as coronary artery disease, blood clots, and stroke.[1] However, The American Heart Association recommends against testing for the common MTHFR gene mutations (C677T and A1298C) as a screen for increased risk of cardiovascular conditions and the College of American Pathologists and the American College of Medical Genetics recommend against testing for C677T and A1298C in people with blood clots. This is because the relationship between C677T and A1298C mutations and risk for cardiovascular disease is not completely understood.[1][2]

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Testing

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Other Names for this Disease

Methylenetetrahydrofolate reductase mutation

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